Early‐onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion.

Autor: Cotta, Ana, Alston, Charlotte L., Baptista‐Junior, Sidney, Paim, Julia F., Carvalho, Elmano, Navarro, Monica M., Appleton, Marie, Ng, Yi Shiau, Valicek, Jaquelin, da‐Cunha‐Junior, Antonio L., Lima, Maria I., Rocque Ferreira, Alessandra, Takata, Reinaldo I., Hargreaves, Iain P., Gorman, Gráinne S., McFarland, Robert, Pierre, Germaine, Taylor, Robert W.

Publikováno v: Journal of Inherited Metabolic Disease Reports; Jul2020, Vol. 54 Issue 1, p45-53, 9p

Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion.

Autor: Cotta A; Department of Pathology SARAH Network of Rehabilitation Hospitals Belo Horizonte Brazil., Alston CL; Wellcome Centre for Mitochondrial Research Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University Newcastle upon Tyne UK.; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary Newcastle upon Tyne Hospitals NHS Foundation Trust Newcastle upon Tyne UK., Baptista-Junior S; Department of Pathology SARAH Network of Rehabilitation Hospitals Belo Horizonte Brazil., Paim JF; Department of Pathology SARAH Network of Rehabilitation Hospitals Belo Horizonte Brazil., Carvalho E; Department of Neurophysiology SARAH Network of Rehabilitation Hospitals Belo Horizonte Brazil., Navarro MM; Department of Pediatrics and Genetics SARAH Network of Rehabilitation Hospitals Belo Horizonte Brazil., Appleton M; Clinical Biochemistry, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust Newcastle upon Tyne UK., Ng YS; Wellcome Centre for Mitochondrial Research Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University Newcastle upon Tyne UK.; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary Newcastle upon Tyne Hospitals NHS Foundation Trust Newcastle upon Tyne UK., Valicek J; Department of Neurophysiology SARAH Network of Rehabilitation Hospitals Belo Horizonte Brazil., da-Cunha-Junior AL; Department of Radiology SARAH Network of Rehabilitation Hospitals Belo Horizonte Brazil., Lima MI; Department of Electron Microscopy SARAH Network of Rehabilitation Hospitals Brasília Brazil., de la Rocque Ferreira A; Department of Molecular Biology SARAH Network of Rehabilitation Hospitals Brasília Brazil., Takata RI; Department of Molecular Biology SARAH Network of Rehabilitation Hospitals Brasília Brazil., Hargreaves IP; Neurometabolic Unit National Hospital for Neurology and Neurosurgery London UK.; School of Pharmacy and Biomolecular Sciences, Liverpool John Moores University Liverpool UK., Gorman GS; Wellcome Centre for Mitochondrial Research Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University Newcastle upon Tyne UK.; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary Newcastle upon Tyne Hospitals NHS Foundation Trust Newcastle upon Tyne UK., McFarland R; Wellcome Centre for Mitochondrial Research Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University Newcastle upon Tyne UK.; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary Newcastle upon Tyne Hospitals NHS Foundation Trust Newcastle upon Tyne UK., Pierre G; South West Regional Metabolic Department Bristol Royal Hospital for Children Bristol UK., Taylor RW; Wellcome Centre for Mitochondrial Research Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University Newcastle upon Tyne UK.; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary Newcastle upon Tyne Hospitals NHS Foundation Trust Newcastle upon Tyne UK.

Publikováno v: JIMD reports [JIMD Rep] 2020 Jun 02; Vol. 54 (1), pp. 45-53. Date of Electronic Publication: 2020 Jun 02 (Print Publication: 2020).